Beckwith-Wiedemann syndrome

Definition

Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms.

Causes

The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic. Most cases are associated with a defect in chromosome number 11.

Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development. Wilm's tumor and adrenal carcinoma are the most common tumor's in patients with this syndrome.

Treatment

Infants with low blood sugar may be treated fluids given through a vein ( intravenous solutions).

Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors.

Outlook (Prognosis)

Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available. Mental development appears to be normal to very slightly decreased. Swelling of the tongue can cause problems with feeding and sleeping.

Possible Complications

Development of tumors

Feeding problems

Hypoglycemia

Respiratory difficulties from obstruction due to large tongue

Seizures

When to Contact a Medical Professional

If you have a child with Beckwith-Wiedemann syndrome and worrisome symptoms develop, call your pediatrician immediately.

Prevention

There is no known prevention for Beckwith-Wiedemann syndrome. Genetic counseling may be of value for families who would like to have additional children.